Acute promyelocytic leukemia with t(2;17;15): report of one case and review of literature
10.3760/cma.j.issn.1009-9921.2019.12.011
- VernacularTitle: 伴t(2;17;15)急性早幼粒细胞白血病一例并文献复习
- Author:
Tingting XU
1
;
Weimin WANG
;
Wenjuan FAN
;
Jingmiao WANG
;
Guomei FU
;
Zhongxing JIANG
Author Information
1. Department of Hematology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
- Publication Type:Journal Article
- Keywords:
Leukemia, promyelocytic, acute;
Translocation, genetic;
Gene fusion;
Tretinoin;
Arsenites
- From:
Journal of Leukemia & Lymphoma
2019;28(12):749-752
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical and laboratory characteristics and therapeutic effect of acute promyelocytic leukemia (APL) with t(2;17;15).
Methods:The G-banding technique was used for karyotypic analysis in a female patient with APL who was admitted to the First Affiliated Hospital of Zhengzhou University in December 2018. PML-RARα fusion gene was quickly detected by fluorescence in situ hybridization (FISH). The real-time quantitative polymerase chain reaction (RT-PCR) was used to detection 43 kinds of fusion gene, and the gene mutations were detected by next generation sequencing (NGS). The induction therapy was given with oral retinoic acid+ intravenous infusion of arsenic trioxide, followed by 3 courses of retinoic acid+ arsenic trioxide consolidation therapy.
Results:The G-banding karyotypic analysis demonstrated 46, XX, t(2;17;15) (q31;q21;q22)[8]/46, XX[2]. FISH results indicated that 62.0% of analyzed cells were positive for the PML-RARα fusion gene. RT-PCR further revealed the positive PML-RARα fusion gene transcript. NGS detection of gene mutations showed no obvious abnormalities. After 39 days of induction therapy with retinoic acid and arsenic trioxide, the patient achieved complete remission (CR). The karyotype was 46XX[20], and PML-RARα/ABL was 0/100. Then, the patient was treated with 3 courses of consolidation therapy, and the results remained in CR.
Conclusions:APL with complex t(2;17;15) (q31;q21;q22) is rare, and the morphological characteristics are not typical, but it is still associated with the formation of PML-RARα fusion gene. Retinoic acid+ arsenic trioxide has a good therapeutic effect, and the long-term efficacy still needs follow-up.